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Langis Michaud; An Innovative Multi-disciplinary Approach To Screen And Follow Patients With Fabry's Disease. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1102.
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To explain the multi-disciplinary innovative screening program that was put in place in Quebec province and across Canada for Fabry's disease.
Description of the Fabry's diseases, its ocular manifestations, and outcomes. A full description of the screening program is given with graphs.
Fabry's disease is life-threatening and affected patients face delays in the diagnosis and the treatment of their condition. Ocular manifestations come early in life. Even if they are easily screenable through a single slit lamp exam, these manifestations are not always typical and could be confused with other corneal abnormalities. In order to avoid these delay factors, optometry was recently involved with the Canadian Fabry Disease Initiative to 1) increase awareness about the disease among primary eyecare providers by providing continuous education lectures across Canada 2) conduct annual clinical examination of the Fabry's patients in Quebec province 3) to to find innovative ways to screen and detect Fabry's suspects (questionnaires, etc). With the help of optometrists in the field, 1,5 year after its implementation, this program already helped to find in Quebec province and in Alberta, 5 new families affected by Fabry's disease and to bring back 4 other patients under appropriate genetic medical care. This also helped to validate a urinary test developped by Dr Auray-Brais, Ph.D. in her genetic disease lab in Sherbrooke (Qc), as a useful screening tool to identify biomarkers (before DNA analysis) in Fabry's suspects. Data from diagnosed Fabry's patients are collected and will be analysed on an on-going basis. This study will become the first longiotudinal one on a cohort of Fabry's patients, treated or not with enzyme replacement therapy.
Optometry can play a significant role in the screening of a life-threatening disease. Clinicians should be aware of the main ocular features of the Fabry's disease and educated on how to manage the patients once diagnosed. Namelym to refer to an appropriate geneticist instead of a general ophthalmologist or family doctor is essential to avoid delays and misunderstanding about the patient's condition.
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